Incidental Mutation 'IGL00650:Dock11'
| ID |
10270 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dock11
|
| Ensembl Gene |
ENSMUSG00000031093 |
| Gene Name |
dedicator of cytokinesis 11 |
| Synonyms |
5033414A21Rik, Zizimin2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
IGL00650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
35152485-35340215 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 35270246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033419]
[ENSMUST00000115266]
|
| AlphaFold |
A2AF47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033419
|
| SMART Domains |
Protein: ENSMUSP00000033419
Gene: ENSMUSG00000031093
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3398
|
52 |
145 |
4.2e-39 |
PFAM |
|
PH
|
166 |
274 |
1.4e-17 |
SMART |
|
Blast:PH
|
329 |
440 |
4e-58 |
BLAST |
|
Pfam:DOCK-C2
|
636 |
827 |
2.4e-53 |
PFAM |
|
low complexity region
|
1254 |
1270 |
N/A |
INTRINSIC |
|
Pfam:DHR-2
|
1510 |
2029 |
7.3e-210 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115266
|
| SMART Domains |
Protein: ENSMUSP00000110921
Gene: ENSMUSG00000031093
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
1 |
90 |
6.82e-7 |
SMART |
|
Blast:PH
|
145 |
256 |
5e-58 |
BLAST |
|
Pfam:DOCK-C2
|
451 |
644 |
1.3e-60 |
PFAM |
|
low complexity region
|
1083 |
1099 |
N/A |
INTRINSIC |
|
low complexity region
|
1521 |
1529 |
N/A |
INTRINSIC |
|
Pfam:Ded_cyto
|
1681 |
1858 |
1.2e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140175
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
A |
G |
11: 81,784,694 (GRCm39) |
|
probably benign |
Het |
| 9130230L23Rik |
T |
C |
5: 66,147,187 (GRCm39) |
N76S |
unknown |
Het |
| Chm |
A |
G |
X: 111,953,292 (GRCm39) |
F574S |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,538,128 (GRCm39) |
I3619T |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,163,622 (GRCm39) |
M818K |
possibly damaging |
Het |
| Ghrhr |
A |
G |
6: 55,356,110 (GRCm39) |
T68A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,159,796 (GRCm39) |
|
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,991 (GRCm39) |
W211R |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,675,692 (GRCm39) |
I1151M |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,156,060 (GRCm39) |
K232E |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,380,664 (GRCm39) |
N3664S |
probably damaging |
Het |
| Ndst2 |
A |
C |
14: 20,779,736 (GRCm39) |
I168S |
possibly damaging |
Het |
| Nmral1 |
A |
T |
16: 4,534,240 (GRCm39) |
L67Q |
probably benign |
Het |
| Nrk |
G |
T |
X: 137,873,670 (GRCm39) |
V322F |
probably damaging |
Het |
| Qpct |
G |
A |
17: 79,378,318 (GRCm39) |
V163M |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,331,096 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,111,137 (GRCm39) |
G1484D |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,275,626 (GRCm39) |
D411G |
possibly damaging |
Het |
| Xpo5 |
T |
C |
17: 46,519,172 (GRCm39) |
Y204H |
probably damaging |
Het |
| Zrsr2 |
A |
T |
X: 162,722,313 (GRCm39) |
M313K |
probably benign |
Het |
|
| Other mutations in Dock11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00536:Dock11
|
APN |
X |
35,258,087 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00769:Dock11
|
APN |
X |
35,267,715 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL00963:Dock11
|
APN |
X |
35,296,035 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01389:Dock11
|
APN |
X |
35,256,701 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01410:Dock11
|
APN |
X |
35,301,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01519:Dock11
|
APN |
X |
35,227,006 (GRCm39) |
missense |
probably benign |
|
|
IGL02023:Dock11
|
APN |
X |
35,232,422 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02253:Dock11
|
APN |
X |
35,304,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02416:Dock11
|
APN |
X |
35,283,739 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02583:Dock11
|
APN |
X |
35,270,370 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03014:Dock11
|
APN |
X |
35,310,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL03037:Dock11
|
APN |
X |
35,310,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL03065:Dock11
|
APN |
X |
35,310,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL03277:Dock11
|
APN |
X |
35,277,603 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0816:Dock11
|
UTSW |
X |
35,283,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0819:Dock11
|
UTSW |
X |
35,283,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0820:Dock11
|
UTSW |
X |
35,283,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Dock11
|
UTSW |
X |
35,333,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1512:Dock11
|
UTSW |
X |
35,283,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Dock11
|
UTSW |
X |
35,266,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Dock11
|
UTSW |
X |
35,248,501 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Posted On |
2012-12-06 |
Incidental Mutation